ClinVar Miner

Variants from Chelly Lab, Institut de Génétique et de Biologie Moléculaire et Cellulaire,Strasbourg University - CNRS UMR 7104 - Inserm U 964

Location: France — Primary collection method: research
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign total
7 0 0 0 0 7

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic total
NEDD4L 4 4
TBC1D23 3 3

Condition and significance breakdown #

Total conditions: 2
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Condition pathogenic total
Periventricular nodular heterotopia with syndactyly, cleft palate and developmental delay 4 4
Pontoneocerebellar hypoplasia 3 3

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